List of variants in gene combination COL10A1, NT5DC1 reported as likely pathogenic for Metaphyseal chondrodysplasia, Schmid type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)	rs765628474	0.00003
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly)	rs111033546
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr)	rs2114278741
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs)	rs2114278703
NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)	rs1779072705
NM_000493.4(COL10A1):c.1845dup (p.Lys616Ter)
NM_000493.4(COL10A1):c.1908_1914del (p.Ser637fs)
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)	rs1582811858
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter)	rs111033547
NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg)	rs2114276916
NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs)	rs1779066131
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)	rs111033552
NM_000493.4(COL10A1):c.415G>T (p.Gly139Cys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.